Pulmonary vein encircling ablation alters the atrial electrophysiologic response to autonomic stimulation von Spector, Peter Salem, Noori, Arshia Mehdi, Hardin, Nicholas Jackson, Calame, James Daniel, Bell, Steve Paul, Lustgarten, Daniel Lawrence

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TLR7 gain-of-function genetic variation causes human lupus von Brown, Grant J., Cañete, Pablo F., Wang, Hao, Medhavy, Arti, Bones, Josiah, Roco, Jonathan A., He, Yuke, Qin, Yuting, Cappello, Jean, Ellyard, Julia I., Bassett, Katharine, Shen, Qian, Burgio, Gaetan, Zhang, Yaoyuan, Turnbull, Cynthia, Meng, Xiangpeng, Wu, Phil, Cho, Eun, Miosge, Lisa A., Andrews, T. Daniel, Field, Matt A., Tvorogov, Denis, Lopez, Angel F., Babon, Jeffrey J., López, Cristina Aparicio, Gónzalez-Murillo, África, Garulo, Daniel Clemente, Pascual, Virginia, Levy, Tess, Mallack, Eric J., Calame, Daniel G., Lotze, Timothy, Lupski, James R., Ding, Huihua, Ullah, Tomalika R., Walters, Giles D., Koina, Mark E., Cook, Matthew C., Shen, Nan, de Lucas Collantes, Carmen, Corry, Ben, Gantier, Michael P., Athanasopoulos, Vicki, Vinuesa, Carola G.

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HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data von Du, Haowei, Dardas, Zain, Jolly, Angad, Grochowski, Christopher M, Jhangiani, Shalini N, Li, He, Muzny, Donna, Fatih, Jawid M, Yesil, Gozde, Elçioglu, Nursel H, Gezdirici, Alper, Marafi, Dana, Pehlivan, Davut, Calame, Daniel G, Carvalho, Claudia M B, Posey, Jennifer E, Gambin, Tomasz, Coban-Akdemir, Zeynep, Lupski, James R

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High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population von Mitani, Tadahiro, Isikay, Sedat, Gezdirici, Alper, Gulec, Elif Yilmaz, Punetha, Jaya, Fatih, Jawid M., Herman, Isabella, Akay, Gulsen, Du, Haowei, Calame, Daniel G., Ayaz, Akif, Tos, Tulay, Yesil, Gozde, Aydin, Hatip, Geckinli, Bilgen, Elcioglu, Nursel, Candan, Sukru, Sezer, Ozlem, Erdem, Haktan Bagis, Gul, Davut, Demiral, Emine, Elmas, Muhsin, Yesilbas, Osman, Kilic, Betul, Gungor, Serdal, Ceylan, Ahmet C., Bozdogan, Sevcan, Ozalp, Ozge, Cicek, Salih, Aslan, Huseyin, Yalcintepe, Sinem, Topcu, Vehap, Bayram, Yavuz, Grochowski, Christopher M., Jolly, Angad, Dawood, Moez, Duan, Ruizhi, Jhangiani, Shalini N., Doddapaneni, Harsha, Hu, Jianhong, Muzny, Donna M., Marafi, Dana, Akdemir, Zeynep Coban, Karaca, Ender, Carvalho, Claudia M.B., Gibbs, Richard A., Posey, Jennifer E., Lupski, James R., Pehlivan, Davut

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A de novo heterozygous rare variant in SV2A predisposes to epilepsy and levetiracetam-induced refractory status epilepticus (2089) von Herman, Isabella, Calame, Daniel, Riviello, James

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Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS‐related rare disease traits von Elbendary, Hasnaa M., Marafi, Dana, Saad, Ahmed K., Elhossini, Rasha, Duan, Ruizhi, Rafat, Karima, Jhangiani, Shalini N., Gibbs, Richard A., Pehlivan, Davut, Calame, Daniel G., Posey, Jennifer E., Lupski, James R., Zaki, Maha S.

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A de novo heterozygous rare variant in SV2A causes epilepsy and levetiracetam-induced drug-resistant status epilepticus von Calame, Daniel G., Herman, Isabella, Riviello, James J.

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Niacin therapy improves outcome and normalizes metabolic abnormalities in an NAXD-deficient patient von Manor, Joshua, Calame, Daniel G, Gijavanekar, Charul, Tran, Alyssa, Fatih, Jawid M, Lalani, Seema R, Mizerik, Elizabeth, Parnes, Mered, Mehta, Vidya P, Adesina, Adekunle M, Lupski, James R, Scaglia, Fernando, Elsea, Sarah H

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Cation leak through the ATP1A3 pump causes spasticity and intellectual disability von Calame, Daniel G, Moreno Vadillo, Cristina, Berger, Seth, Lotze, Timothy, Shinawi, Marwan, Poupak, Javaher, Heller, Corina, Cohen, Julie, Person, Richard, Telegrafi, Aida, Phitsanuwong, Chalongchai, Fiala, Kaylene, Thiffault, Isabelle, Del Viso, Florencia, Zhou, Dihong, Fleming, Emily A, Pastinen, Tomi, Fatemi, Ali, Thomas, Sruthi, Pascual, Samuel I, Torres, Rosa J, Prior, Carmen, Gómez-González, Clara, Biskup, Saskia, Lupski, James R, Maric, Dragan, Holmgren, Miguel, Regier, Debra, Yano, Sho T

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Genomic Balancing Act: deciphering DNA rearrangements in the complex chromosomal aberration involving 5p15.2, 2q31.1, and 18q21.32 von Dardas, Zain, Marafi, Dana, Duan, Ruizhi, Fatih, Jawid M, El-Rashidy, Omnia F, Grochowski, Christopher M, Carvalho, Claudia M B, Jhangiani, Shalini N, Bi, Weimin, Du, Haowei, Gibbs, Richard A, Posey, Jennifer E, Calame, Daniel G, Zaki, Maha S, Lupski, James R

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PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects von Petit, Florence, Longoni, Mauro, Wells, Julie, Maser, Richard S., Bogenschutz, Eric L., Dysart, Matthew J., Contreras, Hannah T.M., Frénois, Frederic, Pober, Barbara R., Clark, Robin D., Giampietro, Philip F., Ropers, Hilger H., Hu, Hao, Loscertales, Maria, Wagner, Richard, Ai, Xingbin, Brand, Harrison, Jourdain, Anne-Sophie, Delrue, Marie-Ange, Gilbert-Dussardier, Brigitte, Devisme, Louise, Keren, Boris, McCulley, David J., Qiao, Lu, Hernan, Rebecca, Wynn, Julia, Scott, Tiana M., Calame, Daniel G., Coban-Akdemir, Zeynep, Hernandez, Patricia, Hernandez-Garcia, Andres, Yonath, Hagith, Lupski, James R., Shen, Yufeng, Chung, Wendy K., Scott, Daryl A., Bult, Carol J., Donahoe, Patricia K., High, Frances A.

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Electrical resynchronization induced by direct His-bundle pacing von Lustgarten, Daniel L., MD, PhD, Calame, Susan, RN, Crespo, Eric M., MD, Calame, James, RN, Lobel, Robert, MD, Spector, Peter S., MD

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PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response von Deb, Wallid, Rosenfelt, Cory, Vignard, Virginie, Papendorf, Jonas Johannes, Möller, Sophie, Wendlandt, Martin, Studencka-Turski, Maja, Cogné, Benjamin, Besnard, Thomas, Ruffier, Léa, Toutain, Bérénice, Poirier, Léa, Cuinat, Silvestre, Kritzer, Amy, Crunk, Amy, diMonda, Janette, Vengoechea, Jaime, Mercier, Sandra, Kleinendorst, Lotte, van Haelst, Mieke M., Zuurbier, Linda, Sulem, Telma, Katrínardóttir, Hildigunnur, Friðriksdóttir, Rún, Sulem, Patrick, Stefansson, Kari, Jonsdottir, Berglind, Zeidler, Shimriet, Sinnema, Margje, Stegmann, Alexander P.A., Naveh, Natali, Skraban, Cara M., Gray, Christopher, Murrell, Jill R., Isikay, Sedat, Pehlivan, Davut, Calame, Daniel G., Posey, Jennifer E., Nizon, Mathilde, McWalter, Kirsty, Lupski, James R., Isidor, Bertrand, Bolduc, François V., Bézieau, Stéphane, Krüger, Elke, Küry, Sébastien, Ebstein, Frédéric

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Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia von Barish, Scott, Lin, Sheng-Jia, Maroofian, Reza, Gezdirici, Alper, Alhebby, Hamoud, Trimouille, Aurélien, Biderman Waberski, Marta, Mitani, Tadahiro, Huber, Ilka, Tveten, Kristian, Holla, Øystein L., Busk, Øyvind L., Houlden, Henry, Ghayoor Karimiani, Ehsan, Beiraghi Toosi, Mehran, Shervin Badv, Reza, Najarzadeh Torbati, Paria, Eghbal, Fatemeh, Akhondian, Javad, Al Safar, Ayat, Alswaid, Abdulrahman, Zifarelli, Giovanni, Bauer, Peter, Marafi, Dana, Fatih, Jawid M., Huang, Kevin, Petree, Cassidy, Calame, Daniel G., von der Lippe, Charlotte, Alkuraya, Fowzan S., Wali, Sami, Lupski, James R., Varshney, Gaurav K., Posey, Jennifer E., Pehlivan, Davut

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Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy von Calame, Daniel G., Bakhtiari, Somayeh, Logan, Rachel, Coban-Akdemir, Zeynep, Du, Haowei, Mitani, Tadahiro, Fatih, Jawid M., Hunter, Jill V., Herman, Isabella, Pehlivan, Davut, Jhangiani, Shalini N., Person, Richard, Schnur, Rhonda E., Jin, Sheng Chih, Bilguvar, Kaya, Posey, Jennifer E., Koh, Sookyong, Firouzabadi, Saghar G., Alehabib, Elham, Tafakhori, Abbas, Esmkhani, Sahra, Gibbs, Richard A., Noureldeen, Mahmoud M., Zaki, Maha S., Marafi, Dana, Darvish, Hossein, Kruer, Michael C., Lupski, James R.

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Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals von Sczakiel, Henrike L, Zhao, Max, Wollert-Wulf, Brigitte, Danyel, Magdalena, Ehmke, Nadja, Stoltenburg, Corinna, Damseh, Nadirah, Al-Ashhab, Motee, Balci, Tugce B, Osmond, Matthew, Andrade, Andrea, Schallner, Jens, Porrmann, Joseph, McDonald, Kimberly, Liao, Mingjuan, Oppermann, Henry, Platzer, Konrad, Dierksen, Nadine, Mojarrad, Majid, Eslahi, Atieh, Bakaeean, Behnaz, Calame, Daniel G, Lupski, James R, Firoozfar, Zahra, Seyedhassani, Seyed Mohammad, Mohammadi, Seyed Ahmad, Anwaar, Najwa, Rahman, Fatima, Seelow, Dominik, Janz, Martin, Horn, Denise, Maroofian, Reza, Boschann, Felix

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Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder von Maroofian, Reza, Zamani, Mina, Kaiyrzhanov, Rauan, Liebmann, Lutz, Karimiani, Ehsan Ghayoor, Vona, Barbara, Huebner, Antje K., Calame, Daniel G., Misra, Vinod K., Sadeghian, Saeid, Azizimalamiri, Reza, Mohammadi, Mohammad Hasan, Zeighami, Jawaher, Heydaran, Sogand, Toosi, Mehran Beiraghi, Akhondian, Javad, Babaei, Meisam, Hashemi, Narges, Schnur, Rhonda E., Suri, Mohnish, Setzke, Jonas, Wagner, Matias, Brunet, Theresa, Grochowski, Christopher M., Emrick, Lisa, Chung, Wendy K., Hellmich, Ute A., Schmidts, Miriam, Lupski, James R., Galehdari, Hamid, Severino, Mariasavina, Houlden, Henry, Hübner, Christian A.

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Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellu... von Ma, Mengqi, Ganapathi, Mythily, Zheng, Yiming, Tan, Kai-Li, Kanca, Oguz, Bove, Kevin E., Quintanilla, Norma, Sag, Sebnem O., Temel, Sehime G., LeDuc, Charles A., McPartland, Amanda J., Pereira, Elaine M., Shen, Yufeng, Hagen, Jacob, Thomas, Christie P., Nguyen Galván, Nhu Thao, Pan, Xueyang, Lu, Shenzhao, Rosenfeld, Jill A., Calame, Daniel G., Wangler, Michael F., Lupski, James R., Pehlivan, Davut, Hertel, Paula M., Chung, Wendy K., Bellen, Hugo J.

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Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis von Frost, F. Graeme, Morimoto, Marie, Sharma, Prashant, Ruaud, Lyse, Belnap, Newell, Calame, Daniel G., Uchiyama, Yuri, Matsumoto, Naomichi, Oud, Machteld M., Ferreira, Elise A., Narayanan, Vinodh, Rangasamy, Sampath, Huentelman, Matt, Emrick, Lisa T., Sato-Shirai, Ikuko, Kumada, Satoko, Wolf, Nicole I., Steinbach, Peter J., Huang, Yan, Pusey, Barbara N., Passemard, Sandrine, Levy, Jonathan, Drunat, Séverine, Vincent, Marie, Guet, Agnès, Agolini, Emanuele, Novelli, Antonio, Digilio, Maria Cristina, Rosenfeld, Jill A., Murphy, Jennifer L., Lupski, James R., Vezina, Gilbert, Macnamara, Ellen F., Adams, David R., Acosta, Maria T., Tifft, Cynthia J., Gahl, William A., Malicdan, May Christine V.

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El‐Hattab‐Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype von Almannai, Mohammed, Marafi, Dana, Abdel‐Salam, Ghada M. H., Zaki, Maha S., Duan, Ruizhi, Calame, Daniel, Herman, Isabella, Levesque, Felix, Elbendary, Hasnaa M., Hegazy, Ibrahim, Chung, Wendy K., Kavus, Haluk, Saeidi, Kolsoum, Maroofian, Reza, AlHashim, Aqeela, Al‐Otaibi, Ali, Al Madhi, Asma, Abou Al‐Seood, Hager M., Alasmari, Ali, Houlden, Henry, Gleeson, Joseph G., Hunter, Jill V., Posey, Jennifer E., Lupski, James R., El‐Hattab, Ayman W.

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